ODCs

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Cerebellar ataxia - hypogonadism

2 OMIM references -
3 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Cleidocranial dysplasia

2 OMIM references -
1 associated gene
40 signs/symptoms

Cerebellar ataxia - hypogonadism

Cleidocranial dysplasia

PNPLA6	(UniProt - OMIM)	RUNX2	(UniProt - OMIM)
RNF216	(UniProt - OMIM)
STUB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STUB1	(0.72)	RUNX2

Citations in the biomedical literature:

Cerebellar ataxia - hypogonadism		Cleidocranial dysplasia
	Synonym(s): - Luteinizing hormone-releasing hormone deficiency with ataxia		Synonym(s): - Cleidocranial dysostosis

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D002973


COMMON SIGNS	- Brachycephaly / flat occiput - Short stature / dwarfism / nanism

Cerebellar ataxia - hypogonadism		Cleidocranial dysplasia
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Ataxia / incoordination / trouble of the equilibrium - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Late puberty / hypogonadism / hypogenitalism - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Retinitis pigmentosa / retinal pigmentary changes - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Sterility / hypofertility Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia Occasional - Clinodactyly of fifth finger - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Supernumerary nipples / polythelia		Very frequent - Anomalies of teeth and dentition - Autosomal dominant inheritance - Clavicle absent / abnormal - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Narrow / sloping shoulders - Repeat respiratory infections - Supernumerary teeth / polyodontia - Wormian bones Frequent - Anomalies of ear and hearing - Anomalies of the ribs - Chronic / relapsing otitis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Hearing loss / hypoacusia / deafness - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Sacro-coccyx / sacrum anomaly - Short hand / brachydactyly - Sloping forehead - Small face Occasional - Apnea / sleep apnea - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Genu valgum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Motor deficit / trouble - Mutiple fractures / bone fragility - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Tapered fingers - Thumb anomalies (excluding hypoplasia)